Conditions / Syndrome
Seckel syndrome 5
info · Syndrome
A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
Signs and symptoms
- Sloping forehead
- Short stature
- Intellectual disability
- Clinodactyly of the 5th finger
- Convex nasal ridge
- Micrognathia
- Simplified gyral pattern
- High palate
- Selective tooth agenesis
- 11 pairs of ribs
Also known as: SCKL5